Volume 32 | Supplement 1

Glasgow, Scotland, United Kingdom

June 10–13, 2023

The ESHG conference delivered the latest findings in the field of human genetics, both basic and applied.

Additional information about the event may be found on the conference website: https://2023.eshg.org/

Sponsorship: Publication of this supplement was sponsored by the European Society of Human Genetics. All content was reviewed and approved by the ESHG Scientific Programme Committee, which held full responsibility for the abstract selections.

Disclosure Information: In order to help readers, form their own judgments of potential bias in published abstracts, authors are asked to declare any competing financial interests.

Contributions of up to EUR 10 000.- (Ten thousand Euros, or equivalent value in kind) per year per company are considered “Modest”. Contributions above EUR 10 000.- per year are considered “Significant”.

Abstracts from the 56th European Society of Human Genetics Conference: Oral Presentations

Plenary Sessions

PL1 ESHG Award Lecture

PL2 Opening Plenary

PL3 What’s New? Highlight Session

PL6 ELPAG Award Lecture

Concurrent Symposia

S01 Translational metabolism: From inborn errors of metabolism to multifactorial diseases

S02 Sex differences in neurodevelopmental disorders

S03 Application of GWAS in social sciences

S04 Honoring diversity: Toward culturally competent genetic counseling

S05 Oligogenics in rare disease

S06 Treatment for interferonopathies

S07 Understanding pre-cancer: Molecular analysis to clinical cancer prevention

S08 Exploiting new approaches in GWAS

S09 Data Altruism and future of data sharing in genomics

S10 Somatic mutations in immune disorders

S11 Complete genomes

S13 Leveraging genetic studies for drug discovery

S14 Precision medicine in renal cancer

S15 Placenta: The forgotten organ

S16 High-throughput functional analysis of variants

S17 Long reads for solving old problems

S18 Co-creating research with participants

S19 Addressing diversity in the genomic world

S21 Gene-disease relationships

S22 Diagnostics in prenatal setting - the present and the future

S23 Beyond coding point mutations: New mutation types in cancer

S24 Health Economics in Genomic Medicine

Educational Sessions

E01 New Technologies: Recent advances in sequencing technologies

E02 Not only DNA editing: Gentler ways to tweak genes

E03 Let’s get up to date on blood cancer genetics and genomics

E04 Harnessing pleiotropy

E05 Therapeutic Gene Editing in Europe: What will it take to make it happen?

E06 Spatial transcriptomics/cell lineages

E08 Should we be routinely returning results from genomic research?

E09 Epilepsy: Genetics & Treatment

E10 Spinal Muscular Atrophy Treatments

E11 Genetics Care for Trans and Gender Diverse Patients: From Medicalization to Empowerment

E13 New mutations and evolution

E14 3D genomes explained

E16 PGS: How close is it to clinical applicability

Concurrent Sessions

C01 RNA and epigenetics in intellectual disability

C02 New treatments and clinical approaches

C03 Multiple congenital anomalies

C04 Clinical genetic counseling

C05 Internal medicine genetics

C06 Inherited metabolic disorders

C07 Evolutionary genetics & genetics of diverse populations

C08 Reproductive genetics

C09 Genome variation: from small to large

C10 Neurogenetics: an update

C11 Genetic epidemiology of molecular traits

C12 Cancer genetic services

C13 Developmental anomalies

C14 Eye genetics

C16 Prenatal genetics

C17 Functional genomics

C18 Neurodevelopmental disorders: new genes

C19 Innovative methods in statistical genetics

C20 High- and low-penetrance inherited cancer risk

C21 Late Breaking Abstracts

C22 Cardiovascular and muscular genomics

C24 Intellectual disability: an update

C25 Diagnostics: large cohorts and novel omics

C26 GWAS

C27 New technologies in cancer genetics

C28 Innovative genomic services

C29 Skin and skeletal disorders: New genes and pathways

Abstracts from the 56th European Society of Human Genetics Conference: e-Posters

P01 Reproductive Genetics

P02 Prenatal Genetics

P03 Sensory Disorders (Eye, Ear, Pain)

P04 Internal Organs & Endocrinology (Lung, Kidney, Liver, Gastrointestinal)

P05 Skeletal, Connective Tissue, Ectodermal and Skin Disorders

P06 Cardiovascular Disorders

P07 Metabolic and Mitochondrial Disorders

P08 Immunology and Hematopoietic System

P09 Intellectual Disability

P10 Neurogenetic and Psychiatric Disorders

P11 Neuromuscular Disorders

P12 Multiple Malformation/Anomalies Syndromes

P13 Cancer Genetics

P14 Genome Variation and Architecture

P15 Cytogenetics

P16 New Technologies and Approaches

P17 Diagnostic Improvements and Quality Control

P18 Bioinformatics, Machine Learning and Statistical Methods

P19 Personalized Medicine and Pharmacogenomics

P20 Population Genetics and Evolutionary Genetics

P21 Functional Genomics and Epigenomics

P22 New Treatments for Genetic Disorders

P23 Genetic Counselling/Services/Education

P24 Ethical, Legal and Psychosocial Aspects in Genetics

P25 GWAS

Abstracts from the 56th European Society of Human Genetics Conference: Hybrid Posters

P01 Reproductive Genetics

P02 Prenatal Genetics

P03 Sensory Disorders (Eye, Ear, Pain)

P04 Internal Organs & Endocrinology (Lung, Kidney, Liver, Gastrointestinal)

P05 Skeletal, Connective Tissue, Ectodermal and Skin Disorders

P06 Cardiovascular Disorders

P07 Metabolic and Mitochondrial Disorders

P08 Immunology and Hematopoietic System

P09 Intellectual Disability

P10 Neurogenetic and Psychiatric Disorders

P11 Neuromuscular Disorders

P12 Multiple Malformation/Anomalies Syndromes

P13 Cancer Genetics

P14 Genome Variation and Architecture

P15 Cytogenetics

P16 New Technologies and Approaches

P17 Diagnostic Improvements and Quality Control

P18 Bioinformatics, Machine Learning and Statistical Methods

P19 Personalized Medicine and Pharmacogenomics

P20 Population Genetics and Evolutionary Genetics

P21 Functional Genomics and Epigenomics

P22 New Treatments for Genetic Disorders

P23 Genetic Counselling/Services/Education

P24 Ethical, Legal and Psychosocial Aspects in Genetics

P25 GWAS